congenital disorder of glycosylation type 2E

Preferred Label : congenital disorder of glycosylation type 2E;

MeSH synonym : CDG2E; congenital disorder of glycosylation, type IIE; CDG IIE; CDGIIE;

Details

Origin ID

C535754;

UMLS CUI

C2931010;

Currated CISMeF NLP mapping
- COG7-CDG [ORDO Disease]
- Component of conserved oligomeric Golgi complex 7 deficiency [ICD-11 More detail]
- Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iie [OMIM Phenotype]
- congenital disorder of glycosylation type IIe [Disease (Nov.)]
- congenital disorder of glycosylation type IIe [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIe [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 2E [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COG7-CDG [ORDO Disease]
- Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iie [OMIM Phenotype]
- congenital disorder of glycosylation type IIe [Disease (Nov.)]
- congenital disorder of glycosylation type IIe [DO Concept]

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